Incidental Mutation 'R1121:Cops7a'
| ID |
95626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops7a
|
| Ensembl Gene |
ENSMUSG00000030127 |
| Gene Name |
COP9 signalosome subunit 7A |
| Synonyms |
COP9 complex S7a, D6Ertd35e |
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124935376-124942501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124939379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032220]
[ENSMUST00000112439]
[ENSMUST00000129446]
[ENSMUST00000129976]
[ENSMUST00000148485]
|
| AlphaFold |
Q9CZ04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032220
AA Change: D90G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: D90G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
PINT
|
87 |
177 |
2.65e-18 |
SMART |
|
coiled coil region
|
197 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112439
AA Change: D90G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: D90G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
PINT
|
87 |
177 |
2.65e-18 |
SMART |
|
coiled coil region
|
197 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129446
AA Change: D90G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114420
Gene: ENSMUSG00000030127
AA Change: D90G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
PINT
|
87 |
176 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129976
AA Change: D90G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127
AA Change: D90G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
PINT
|
87 |
177 |
2.65e-18 |
SMART |
|
coiled coil region
|
197 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148485
|
| SMART Domains |
Protein: ENSMUSP00000115348
Gene: ENSMUSG00000030127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Blast:PINT
|
31 |
77 |
2e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149346
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
probably benign |
Het |
|
| Other mutations in Cops7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Cops7a
|
APN |
6 |
124,939,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
rubric
|
UTSW |
6 |
124,937,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Cops7a
|
UTSW |
6 |
124,939,416 (GRCm39) |
unclassified |
probably benign |
|
|
R0139:Cops7a
|
UTSW |
6 |
124,938,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0242:Cops7a
|
UTSW |
6 |
124,941,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Cops7a
|
UTSW |
6 |
124,941,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1662:Cops7a
|
UTSW |
6 |
124,939,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1935:Cops7a
|
UTSW |
6 |
124,939,359 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Cops7a
|
UTSW |
6 |
124,939,325 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3796:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Cops7a
|
UTSW |
6 |
124,939,583 (GRCm39) |
splice site |
probably null |
|
|
R5858:Cops7a
|
UTSW |
6 |
124,937,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6477:Cops7a
|
UTSW |
6 |
124,937,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Cops7a
|
UTSW |
6 |
124,935,748 (GRCm39) |
splice site |
probably null |
|
|
R8906:Cops7a
|
UTSW |
6 |
124,939,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTTCAGTTCAGACCCAGACAGG -3'
(R):5'- AGAAAGCGACTTTGCCTCCACC -3'
Sequencing Primer
(F):5'- ACCCAGACAGGGGAGGC -3'
(R):5'- TATGGGACCTATGCGGACTAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation